ABCA13 (ATP binding cassette subfamily A member 13)

2016-01-01  

Identity

HGNC
LOCATION
7p12.3
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 154664
MIM: 607807
HGNC: 14638
Ensembl: ENSG00000179869

Variants:

dbSNP: 154664
ClinVar: 154664
TCGA: ENSG00000179869
COSMIC: ABCA13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179869ENST00000411975H0Y4D2
ENSG00000179869ENST00000417403Q86UQ4
ENSG00000179869ENST00000435451H7BZI9
ENSG00000179869ENST00000435803A0A0A0MT16
ENSG00000179869ENST00000453246H7C0U5
ENSG00000179869ENST00000544596F5H7B7

Expression (GTEx)

0
1
2

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
199444022009A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression.27
199444022009A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression.27
190587892009A common variant in DRD3 receptor is associated with autism spectrum disorder.19
258896872015CIAPIN1 and ABCA13 are markers of poor survival in metastatic ovarian serous carcinoma.13
126979982002The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3, encodes a 5058 amino acid protein with an extracellular domain encoded in part by a 4.8-kb conserved exon.6
232666392013Evidence for an alternative genomic structure, mRNA and protein sequence of human ABCA13.2
232500052013No evidence for an involvement of copy number variation in ABCA13 in schizophrenia, bipolar disorder, or major depressive disorder.1
258989272016Rare missense variants within a single gene form yin yang haplotypes.1
277121362017Association between the variability of the ABCA13 gene and the risk of major depressive disorder and schizophrenia in the Han Chinese population.1

Citation

Dessen P

ABCA13 (ATP binding cassette subfamily A member 13)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/55613/abca13